PR:000000439 growth/differentiation factor 5 sequence variant L441P (human) growth/differentiation factor 5 sequence variant 3 (human)|hGDF5/var:L441P|UniProtKB:P43026, Leu-441, CHEBI:50342 associated_with_disease_progression DOID:0050790 fibular hypoplasia and complex brachydactyly UniProtKB_VAR:VAR_017408 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_017408 20080301 PRO:CNA